The clinical application of array CGH for the detection of chromosomal defects in 20,126 unselected newborns

Molecular Cytogenetics

Volumn 6, Issue 1, 2013, Pages

  Park, Sang Jin ^a   Jung, Eun Hye ^a   Ryu, Ran Suk ^a   Kang, Hyun Woong ^b   Chung, He Doo ^c   Kang, Ho Young ^a  

^a MG MED Inc   (South Korea)

^b Macrogen Inc   (South Korea)

^c MGMED Clinic   (South Korea)

Author keywords

Array CGH; Chromosome abnormality; Newborns

Indexed keywords

ANEUPLOIDY; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; HUMAN; KARYOTYPE 45,X; KARYOTYPE 47,XXY; MAJOR CLINICAL STUDY; NEWBORN; NEWBORN SCREENING; PRIORITY JOURNAL; TRISOMY 13; TRISOMY 21;

EID: 84878370653     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/1755-8166-6-21     Document Type: Article

References (22)

1. Validation and implementation of array comparative genomic hybridisation as a first line test in place of postnatal karyotyping for genome imbalance. Ahn JW, Mann K, Walsh S, Shehab M, Hoang S, Docherty Z, Mohammed S, Mackie Ogilvie C, Mol Cytogenet 2010 3 9 10.1186/1755-8166-3-9 20398301
2. Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases. Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, Cheon CK, Hwang SH, Kang HY, Mol Cytogenet 2011 4 12 10.1186/1755-8166-4-12 21549014
3. Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies. Shaffer LG, Dabell MP, Fisher AJ, Coppinger J, Bandholz AM, Ellison JW, Ravnan JB, Torchia BS, Ballif BC, Rosenfeld JA, Prenat Diagn 2012 32 976 985 10.1002/pd.3945 22865506
4. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, et al. Am J Hum Genet 2010 86 749 764 10.1016/j.ajhg.2010.04.006 20466091
5. Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies. Iourov IY, Vorsanova SG, Kurinnaia OS, Zelenova MA, Silvanovich AP, Yurov YB, Mol Cytogenet 2012 5 46 10.1186/1755-8166-5-46 23272938
6. Sex chromosome trisomies in Europe: prevalence, prenatal detection and outcome of pregnancy. Boyd PA, Loane M, Garne E, Khoshnood B, Dolk H, Eur J Hum Genet 2011 19 231 234 10.1038/ejhg.2010.148 20736977
7. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Wellesley D, Dolk H, Boyd PA, Greenlees R, Haeusler M, Nelen V, Garne E, Khoshnood B, Doray B, Rissmann A, et al. Eur J Hum Genet 2012 20 521 526 10.1038/ejhg.2011.246 22234154
8. Identification of origin of unknown derivative chromosomes by array-based comparative genomic hybridization using pre- and postnatal clinical samples. Choe J, Kang JK, Bae CJ, Lee DS, Hwang D, Kim KC, Park WY, Lee JH, Seo JS, J Hum Genet 2007 52 934 942 10.1007/s10038-007-0199-1 17940726
9. A highly annotated whole-genome sequence of a Korean individual. Kim JI, Ju YS, Park H, Kim S, Lee S, Yi JH, Mudge J, Miller NA, Hong D, Bell CJ, et al. Nature 2009 460 1011 1015 19587683
10. A cytogenetic survey of 14,069 newborn infants. I. Incidence of chromosome abnormalities. Hamerton JL, Canning N, Ray M, Smith S, Clin Genet 1975 8 223 243 1183067
11. The prevalence of congenital anomalies in Europe. Dolk H, Loane M, Garne E, Adv Exp Med Biol 2010 686 349 364 10.1007/978-90-481-9485-8-20 20824455
12. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. Jacobs PA, Browne C, Gregson N, Joyce C, White H, J Med Genet 1992 29 103 108 10.1136/jmg.29.2.103 1613759
13. Ending the late diagnosis of Turner syndrome through a novel high-throughput assay. Rivkees SA, Pediatr Endocrinol Rev 2012 9 Suppl 2 698 700 23304806
14. New concepts in Klinefelter syndrome. Paduch DA, Fine RG, Bolyakov A, Kiper J, Curr Opin Urol 2008 18 621 627 10.1097/MOU.0b013e32831367c7 18832949
15. Down's syndrome and Alzheimer's disease: towards secondary prevention. Ness S, Rafii M, Aisen P, Krams M, Silverman W, Manji H, Nat Rev Drug Discov 2012 11 655 656 10.1038/nrd3822 22935789
16. The schizophrenia phenotype in 22q11 deletion syndrome. Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R, Am J Psychiatry 2003 160 1580 1586 10.1176/appi.ajp.160.9.1580 12944331
17. Velo-cardio-facial syndrome. Gothelf D, Frisch A, Michaelovsky E, Weizman A, Shprintzen RJ, J Ment Health Res Intellect Disabil 2009 2 149 167 10.1080/19315860902756136 20111667
18. Is earlier better? At the beginning of schizophrenia: timing and opportunities for early intervention. Clarke M, O'Callaghan E, Psychiatr Clin North Am 2003 26 65 83 10.1016/S0193-953X(02)00036-9 12683260
19. Genomic disorders on chromosome 22. Yu S, Graf WD, Shprintzen RJ, Curr Opin Pediatr 2012 24 665 671 10.1097/MOP.0b013e328358acd0 23111679
20. Cri du chat syndrome. Cerruti Mainardi P, Orphanet J Rare Dis 2006 1 33 10.1186/1750-1172-1-33 16953888
21. 15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features. Abdelmoity AT, LePichon JB, Nyp SS, Soden SE, Daniel CA, Yu S, J Dev Behav Pediatr 2012 33 570 576 10.1097/DBP.0b013e31826052ae 22922608
22. Early recognition of hereditary motor and sensory neuropathy type 1 can avoid life-threatening vincristine neurotoxicity. Naumann R, Mohm J, Reuner U, Kroschinsky F, Rautenstrauss B, Ehninger G, Br J Haematol 2001 115 323 325 10.1046/j.1365-2141.2001.03126.x 11703329